Khizar Hamid, MD
The University of South Dakota Sanford School of Medicine
Sioux Falls
Disclosure information not submitted.
Paul Berger, MD
Pulmonologist, Intensivist
Sanford USD Medical Center, United States
Disclosure information not submitted.
Title: Subarachnoid Hemorrhage associated with Homozygous Alpha-1 Antitrypsin Deficiency.
Case Report Body:
Introduction: Severe headache is the cardinal feature of subarachnoid hemorrhage with ruptured intracranial aneurysm (IA) being the cause in 85% of the cases. The common risk factors include hypertension, smoking, alcohol consumption and some genetic risk factors.
Description: 61-year-old man with a past medical history of hypertension and shortness of breath secondary to his occupation as a wilderness firefighter presented after sudden unresponsiveness. He had complained of headaches and elevated blood pressure in the past 24 hours. Further review revealed his blood pressure medications were recently adjusted. He was unresponsive, not following commands and was intubated for airway protection. Examination and vital signs were unremarkable and brain imaging revealed a massive subarachnoid hemorrhage. A cerebral angiogram showed a 2.5mm deep and 3mm wide, wide-neck aneurysm within the first segment of the left posterior inferior cerebellar artery. This was managed with a flow diverting stent. Treatment according to the stroke protocol was initiated with seizure prophylaxis, nimodipine, daily transcranial Doppler ultrasound and blood pressure management with systolic goals in the range of 120-150 mm of Hg. His massive bleed also required the placement of an external ventricular drain (EVD). The patient's clinical condition improved, the EVD was removed and he was extubated but continued to require oxygen supplementation. A computed tomographic angiogram of the chest was done which excluded pulmonary embolism but revealed homogenous bibasilar emphysematous changes along with some infiltrates. Antibiotics were initiated and testing for alpha-1 antitrypsin (AAT) was sent and he was found to have a homozygous deficiency. Gradually he regained his strength and started to participate in therapies. He was discharged to a rehabilitation facility where he made a remarkable recovery without any residual neurological deficits.
Discussion: AAT deficiency has been associated with the development of an IA, especially in homozygous variants, males and in the Caucasian population. AAT deficiency and its association with an IA in the Asian population has not been established. Male Caucasian subarachnoid hemorrhage patients with emphysematous changes should be evaluated for AAT deficiency as a potential cause of the IA.